To identify genetic mutations and to investigate their influence on the odontogenesis in oligodontia patients.

2021 Fiscal Year Final Research Report

• Project/Area Number: 19K19293
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 57070:Developmental dentistry-related
• Research Institution: Okayama University
• Principal Investigator: Hoshijima Mitsuhiro 岡山大学, 医歯薬学域, 助教 (30736567)
• Project Period (FY): 2019-04-01 – 2022-03-31
• Keywords: 先天性部分無歯症 / 全エクソン解析 / KCNK15 / WNK1 / Rab38 / PLA法

Outline of Final Research Achievements

To identify genetic mutations and to elucidate their influence on the odontogenesis in oligodontia patients, we investigated the specific mutations for the oligodontia group in comparison with control group using all exome sequencing. As the results, some novel mutations, KCNK15, WNK1 and RAB38, were identified in the oligodontia group.
Furthermore, to study the influence of these genetic mutations on the physiological function, secretion of extracellular matrices, in odontoblasts. We analyzed the expression of mRNA and the subcellular localization of these proteins in the various cells.
In addition, we investigated of hypodontia in Department of Orthodontics, Okayama University Hospital and reported to a journal.

Free Research Field

矯正・小児系歯学

Academic Significance and Societal Importance of the Research Achievements

申請者らがこれまでの全エクソン解析を通じて検出した症例群特異的なKCNK15、WNK1およびRAB38等の遺伝子変異については、歯を含む硬組織形成への関与を示す報告はなく、国内外でも類を見ない新規性の高い研究である。歯牙形成の研究に一石を投じる内容であり、学術的意義は大きい。
また、先欠歯を伴う症例群と対照群間の網羅的なゲノム解析よって、多くのさらに多くの新規の遺伝子変異が特定されれば、遺伝子診断による重度不正咬合の予防的回避や、歯牙再生等の歯科治療への応用につながる可能性があり、その社会的意義は非常に大きい。